Canonical Allele Identifier: CA1908749679

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471013T= , CM000672.2:g.49471013T=	GRCh38
NC_000010.10:g.50679059T= , CM000672.1:g.50679059T=	GRCh37
NC_000010.9:g.50349065T=	NCBI36
NG_009442.1:g.73089A= , LRG_465:g.73089A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3032A= MANE Select	ENSP00000348089.5:p.Asp1011=
ENST00000679552.1:n.142-124A=
ENST00000679871.1:n.178A=
ENST00000679974.1:n.120-124A=
ENST00000681632.1:n.4435A=
ENST00000681659.1:c.2873A=	ENSP00000505631.1:p.Asp958=
ENST00000355832.9:c.3032A=	ENSP00000348089.5:p.Asp1011=
ENST00000623073.3:c.*1328A=	ENSP00000485650.1:n.*1328A=
ENST00000623115.3:c.1142A=	ENSP00000485321.1:p.Asp381=
ENST00000624341.3:c.864A=
NM_000124.3:c.3032A=	NP_000115.1:p.Asp1011=
XR_945953.1:n.243-552T=
NM_001346440.1:c.3032A=	NP_001333369.1:p.Asp1011=
NM_000124.4:c.3032A= MANE Select	NP_000115.1:p.Asp1011=
NM_001346440.2:c.3032A=	NP_001333369.1:p.Asp1011=